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Article

Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12.

Parkinsonism & related disorders - 1 Apr 2015

Dong Yi, Wu Jian-Jun, Wu Zhi-Ying

Abstract excerpt

BACKGROUND: Spinocerebellar ataxia type 12 (SCA12) is predominantly characterized by action tremor, followed by slowly progressive cerebellar dysfunction. It is a very rare disorder and only identified in certain countries so far. The current appreciation for phenotypic and genotypic features of SCA12 is still limited. METHODS: We investigated CAG copies within PPP2R2B in 29 patients with spinocerebellar ataxia...

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PMID: 25634432
DOI: 10.1016/j.parkreldis.2015.01.006

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